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Molecular cytogenetic studies of duplication 9q32→q34.3 inserted into 9q13
Author(s) -
Hou JiaWoei,
Wang TsoRen
Publication year - 1995
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1995.tb04075.x
Subject(s) - cosmid , fluorescence in situ hybridization , biology , karyotype , gene duplication , genetics , chromosomal inversion , locus (genetics) , chromosome 9 , euchromatin , cytogenetics , partial trisomy , microbiology and biotechnology , chromosome , gene , heterochromatin
Fluorescence in situ hybridization (FISH) studies using whole chromosome 9 painting probe, classical satellite (9q12‐specific) probe and abl cosmid probe (locus: 9q34) were performed on a female infant who was born with multiple congenital anomalies and the karyotype 46,XX, 9q+. The results of FISH confirm the euchromatic nature of the extra material on the long arm of chromosome 9, and provide evidence that it is of chromosome 9 origin. The structural rearrangement has probably resulted from an insertion of a duplicated segment 9q32→q34.3 into band q13, as shown by the abl cosmid probe. The clinical features in this patient are similar to the previously reported cases of partial trisomy 9q3.